Variant report

Variant	rs11604516
Chromosome Location	chr11:66831749-66831750
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66786143..66803039-chr11:66815769..66832347,160	MCF-7	breast:
2	chr11:66786222..66802522-chr11:66819452..66831805,83	MCF-7	breast:
3	chr11:66822518..66826076-chr11:66828864..66833150,3	K562	blood:
4	chr11:66761490..66778711-chr11:66821814..66832221,36	MCF-7	breast:
5	chr11:66830360..66831960-chr11:67054283..67056361,2	MCF-7	breast:
6	chr11:66830388..66831989-chr11:66886247..66888599,3	MCF-7	breast:
7	chr11:66824078..66826633-chr11:66830273..66833345,3	K562	blood:

Variant related genes	Relation type
ENSG00000173156	Chromatin interaction
ENSG00000173120	Chromatin interaction
ENSG00000173227	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000252709	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11605263	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
3	esv1817552	chr11:66751014-66839985	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
4	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66825200-66832000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:66825200-66838800	Weak transcription	Spleen	Spleen
3	chr11:66825200-66841400	Weak transcription	Aorta	Aorta
4	chr11:66825200-66849200	Weak transcription	Colon Smooth Muscle	Colon
5	chr11:66825400-66833200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:66825400-66833800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:66825400-66838800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:66825400-66839000	Weak transcription	Lung	lung
9	chr11:66825400-66839000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr11:66825400-66839200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:66825400-66849400	Weak transcription	Ovary	ovary
12	chr11:66826600-66839000	Weak transcription	Fetal Intestine Large	intestine
13	chr11:66826800-66831800	Weak transcription	Fetal Heart	heart
14	chr11:66827400-66831800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr11:66827600-66841800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:66828000-66834000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:66828000-66839000	Weak transcription	NH-A	brain
18	chr11:66828000-66845600	Weak transcription	Osteobl	bone
19	chr11:66828400-66832000	Weak transcription	Left Ventricle	heart
20	chr11:66828400-66832200	Weak transcription	Right Ventricle	heart
21	chr11:66828400-66839000	Weak transcription	Right Atrium	heart
22	chr11:66828800-66833200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:66830000-66833600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:66830200-66832400	Weak transcription	Fetal Intestine Small	intestine
25	chr11:66830200-66833200	Weak transcription	Liver	Liver
26	chr11:66830400-66833000	Weak transcription	Fetal Stomach	stomach
27	chr11:66830400-66833200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:66830400-66834200	Weak transcription	Gastric	stomach
29	chr11:66830400-66838800	Weak transcription	Pancreas	Pancrea
30	chr11:66830600-66831800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:66830600-66832000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:66830600-66833200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:66830600-66833200	Weak transcription	Esophagus	oesophagus
34	chr11:66830600-66838400	Weak transcription	A549	lung
35	chr11:66830800-66832000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:66830800-66832000	Weak transcription	NHEK	skin
37	chr11:66830800-66833200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:66830800-66833800	Weak transcription	Hela-S3	cervix
39	chr11:66830800-66834200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr11:66830800-66839000	Weak transcription	Stomach Mucosa	stomach
41	chr11:66831200-66833000	Weak transcription	HMEC	breast
42	chr11:66831400-66833200	Weak transcription	Placenta	Placenta
43	chr11:66831400-66844600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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